Albinism is a rare genetic condition caused by mutations of certain genes that affect the amount of melanin your body produces. Melanin controls the pigmentation (color) of your skin, eyes, and hair.People with albinism have extremely pale skin, eyes, and hair. They are at an increased risk of vision, skin, and social issues; the patients aren't born with the usual amount of melanin pigment.Melanin is a ch  Read More

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed  Read More

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed  Read More

HS is divided into mild, moderate, and severe forms of the disease. Classification is based on the amounts of hemoglobin, reticulocytes, and bilirubin and the amount of spectrin in red blood cells. Hemoglobin transports oxygen in the blood. Reticulocytes are immature red blood cells. Bilirubin is formed in the liver when hemoglobin is broken down. Spectrin is a protein that helps keep the shape of a cell. Decreased hemoglobin and spectrin and  Read More

The symptoms and physical findings associated with Rosai-Dorfman disease vary greatly from one person to another depending upon the extent of the disorder and the specific organ systems affected. Some cases may only affect the lymph nodes and may not cause any serious complications. Less often, some cases may affect various organ systems of the body and may potentially cause serious complications. Any organ system of the body may become affect  Read More

The most common symptoms of Waardenburg syndrome are pale skin and pale eyes. Another common symptom is a streak of white hair near the forehead. In many cases, someone with this condition might have two different-colored eyes. This is known as heterochromia iridis. Heterochromia can exist without the presence of Waardenburg syndrome. In some newborns with Waardenburg syndrome, the condition is obvious at birth. For others, it  Read More